| General information | Literature | Expression | Regulation | Variant | Interaction |
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Basic Information |
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|---|---|
Gene ID | 94 |
Name | ACVRL1 |
Synonym | ACVRLK1|ALK-1|ALK1|HHT|HHT2|ORW2|SKR3|TSR-I;activin A receptor type II-like 1;ACVRL1;activin A receptor type II-like 1 |
Definition | TGF-B superfamily receptor type I|activin A receptor, type II-like kinase 1|serine/threonine-protein kinase receptor R3 |
Position | 12q13.13 |
Gene Type | protein-coding |
|
PAH Type |
Description |
PAH | Clinical and molecular genetic features of pulmonary hypertension in patients with hereditary hemorrhagic telangiectasia. |
PAH | Molecular and functional analysis identifies ALK-1 as the predominant cause of pulmonary hypertension related to hereditary haemorrhagic telangiectasia. |
PAH | Transforming growth factor-beta receptor mutations and pulmonary arterial hypertension in childhood. |
PAH | Echocardiographic screening discloses increased values of pulmonary artery systolic pressure in 9 of 68 unselected patients affected with hereditary hemorrhagic telangiectasia. |
PAH | Implications of mutations of activin receptor-like kinase 1 gene (ALK1) in addition to bone morphogenetic protein receptor II gene (BMPR2) in children with pulmonary arterial hypertension. |
PAH | Identification of genetic polymorphisms associated with risk for pulmonary hypertension in sickle cell disease. |
PAH | [Analysis of genetic mutation and modifier genes in pulmonary arterial hypertension]. |
PAH | Bone morphogenetic protein (BMP) and activin type II receptors balance BMP9 signals mediated by activin receptor-like kinase-1 in human pulmonary artery endothelial cells. |
PAH | Clinical outcomes of pulmonary arterial hypertension in patients carrying an ACVRL1 (ALK1) mutation. |
PAH | Patients with childhood idiopathic pulmonary arterial hypertension or heritable pulmonary arterial hypertension with ALK1 mutation carriers tended to have worse outcomes than mutation noncarriers. |
| More detail of all Human literatures about ACVRL1 | |
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Pathways and Diseases |
|
Pathway | ALK1 pathway;PID Curated;200024 |
Pathway | TGF-beta signaling pathway;PANTHER;P00052 |
Pathway | ALK1 signaling events;PID Curated;200126 |
Disease | Hereditary hemorrhagic telangiectasia-2;OMIM |
Disease | arteriovenous dysplasias brain hemorrhage;GAD |
Disease | Cardiovascular disease;FunDO |
Disease | cerebral arteriopathy;GAD |
Disease | CARDIOVASCULAR;GAD |
Disease | Connective tissue disease;FunDO |
Disease | Brain disease;FunDO |
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External Links |
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Links to Entrez Gene | 94 |
Links to all GeneRIF Items | 94 |
Links to iHOP | 94 |
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Sequence Information |
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Nucleotide Sequence |
>94 : length: 1512 atgaccttgggctcccccaggaaaggccttctgatgctgctgatggccttggtgacccag ggagaccctgtgaagccgtctcggggcccgctggtgacctgcacgtgtgagagcccacat tgcaaggggcctacctgccggggggcctggtgcacagtagtgctggtgcgggaggagggg aggcacccccaggaacatcggggctgcgggaacttgcacagggagctctgcagggggcgc cccaccgagttcgtcaaccactactgctgcgacagccacctctgcaaccacaacgtgtcc ctggtgctggaggccacccaacctccttcggagcagccgggaacagatggccagctggcc ctgatcctgggccccgtgctggccttgctggccctggtggccctgggtgtcctgggcctg tggcatgtccgacggaggcaggagaagcagcgtggcctgcacagcgagctgggagagtcc agtctcatcctgaaagcatctgagcagggcgacagcatgttgggggacctcctggacagt gactgcaccacagggagtggctcagggctccccttcctggtgcagaggacagtggcacgg caggttgccttggtggagtgtgtgggaaaaggccgctatggcgaagtgtggcggggcttg tggcacggtgagagtgtggccgtcaagatcttctcctcgagggatgaacagtcctggttc cgggagactgagatctataacacagtgttgctcagacacgacaacatcctaggcttcatc gcctcagacatgacctcccgcaactcgagcacgcagctgtggctcatcacgcactaccac gagcacggctccctctacgactttctgcagagacagacgctggagccccatctggctctg aggctagctgtgtccgcggcatgcggcctggcgcacctgcacgtggagatcttcggtaca cagggcaaaccagccattgcccaccgcgacttcaagagccgcaatgtgctggtcaagagc aacctgcagtgttgcatcgccgacctgggcctggctgtgatgcactcacagggcagcgat tacctggacatcggcaacaacccgagagtgggcaccaagcggtacatggcacccgaggtg ctggacgagcagatccgcacggactgctttgagtcctacaagtggactgacatctgggcc tttggcctggtgctgtgggagattgcccgccggaccatcgtgaatggcatcgtggaggac tatagaccacccttctatgatgtggtgcccaatgaccccagctttgaggacatgaagaag gtggtgtgtgtggatcagcagacccccaccatccctaaccggctggctgcagacccggtc ctctcaggcctagctcagatgatgcgggagtgctggtacccaaacccctctgcccgactc accgcgctgcggatcaagaagacactacaaaaaattagcaacagtccagagaagcctaaa gtgattcaatag |
Protein Sequence |
>94 : length: 503 MTLGSPRKGLLMLLMALVTQGDPVKPSRGPLVTCTCESPHCKGPTCRGAWCTVVLVREEG RHPQEHRGCGNLHRELCRGRPTEFVNHYCCDSHLCNHNVSLVLEATQPPSEQPGTDGQLA LILGPVLALLALVALGVLGLWHVRRRQEKQRGLHSELGESSLILKASEQGDSMLGDLLDS DCTTGSGSGLPFLVQRTVARQVALVECVGKGRYGEVWRGLWHGESVAVKIFSSRDEQSWF RETEIYNTVLLRHDNILGFIASDMTSRNSSTQLWLITHYHEHGSLYDFLQRQTLEPHLAL RLAVSAACGLAHLHVEIFGTQGKPAIAHRDFKSRNVLVKSNLQCCIADLGLAVMHSQGSD YLDIGNNPRVGTKRYMAPEVLDEQIRTDCFESYKWTDIWAFGLVLWEIARRTIVNGIVED YRPPFYDVVPNDPSFEDMKKVVCVDQQTPTIPNRLAADPVLSGLAQMMRECWYPNPSARL TALRIKKTLQKISNSPEKPKVIQ |